During CF Awareness Month, Emily’s Entourage invites members of the CF community to share their stories. Today’s blog post features Chris and Erica Molaro, a couple who took action to treat their unborn daughter diagnosed with CF, using CFTR modulators under medical supervision to provide in utero treatment and improve her health outcomes.

In January 2023, we received life-changing news: our soon-to-be-born daughter was going to be born with cystic fibrosis (CF).

Specifically, she was going to be born with two copies of the F508del gene mutation. This news was a shock—neither of our families have a history of CF; at least not that we know of. We only learned that we were both carriers of the gene mutation upon her diagnosis.

The day we found out she was going to be born with CF will forever be seared in our memory. The truth is that this news was terrible news. It was tragic. It was devastating.

It meant that our daughter would live with a terrible, fatal, progressive condition for the rest of her life. It would mean hospital stays; daily medications; daily chest physical therapy, multiple times a day for airway clearance; risks of malnutrition; likely emergency bowel surgery, and on and on.

Despite the heartbreaking prognosis, we remained determined to approach the situation with optimism.

Drawing strength from the stoic philosophy of Marcus Aurelius, we focused on what we could control, refusing to let CF overshadow the joy of expecting our first child.

While the challenges ahead were daunting, we found hope in the advancements in CF care and the world-class medical support near our home. There was still so much to be hopeful about—especially with our daughter on the way.

Driven by this unwavering desire to ensure the best possible outcome for our baby, our search for hope led us to the promise of a new mutation-targeted CFTR  modulator therapy. Taken twice daily, the drug modulates the CFTR (cystic fibrosis transmembrane conductance regulator) protein, which regulates the flow of salt and water in and out of cells,addressing the root cause of CF rather than just its symptoms.

Learning about this mutation-targeted CFTR modulator therapy could not have come soon enough. Our baby was three months away from being born and she was showing an echogenic bowel on ultrasound. A common early sign of CF, it could lead to serious complications like bowel perforation, sepsis, and death, if not corrected.

With the supervision of her medical team, Erica bravely became the fourth mother to take the CFTR modulator during pregnancy to treat our daughter in utero.

Her echogenic bowel seemed to stabilize.

On May 22, 2023, our beautiful little girl entered the world. While her bowel issues had improved, they didn’t completely resolve, and she struggled with meconium ileus—another common symptom in babies with CF—leading to a 16-day stay in the NICU.

Though we faced challenges, we were beyond grateful that surgery was avoided and, before we knew it, we were home, ready to begin our journey together.

After being discharged from the hospital, Erica took another courageous step by continuing the CFTR modulator therapy under the guidance of her medical team. This time, she delivered the treatment through her breast milk, making her one of the first, if not the first, mothers to do so.

One of the ways CF is diagnosed is through a sweat-chloride test. People with CF are unable to regulate the salt in their bodies, so their sweat is literally saltier. Any chloride reading higher than 60mmol/L is diagnosable for CF.

Our daughter’s initial sweat test, taken about a week after being born, was 83. While this wasn’t surprising due to her diagnosis, it was promising to see the result was lower than typical for her mutation type.

To track our daughter’s progress, we worked with our medical team to schedule regular  sweat tests every few months to assess how the treatment through breast milk was affecting her—though, at the time, this method was unproven and untested.

A few months after her initial sweat test, her second test’s results came in. Her medical team called us ecstatic: “Did you see the results?! Her sweat test results measured 57!”

Shortly after, her third sweat test results improved further to 33.

Now, as our daughter approaches her second birthday, her latest sweat test was 27. She is pancreatic sufficient and has the spirit (and attitude) of any toddler.

Yes, she still has CF; this isn’t the story of a cure, but it is one of hope and progress. Her CF is still serious, but it’s being managed. Recently, while participating in the Emily’s Entourage Scientific Symposium, one of the researchers from the company that produces our daughter’s CFTR modulator said, “She has CF, but isn’t living with CF.”  That captures how we feel every day—while the disease is still a part of her life, it doesn’t define her.

Modern science has brought incredible advancements. One of them, this CFTR modulator has been a blessing for our family, but the truth is, it’s still out of reach for many people with CF. The treatment is costly, limited in availability, and it is only effective for those with specific CF mutations, leaving roughly 10% of people with CF without options. We must continue to push the boundaries of research, striving to find effective treatments for the broader CF community, and working toward the ultimate goal: making CF a thing of the past for everyone living with this awful disease.

Authors

Chris is the CEO of NeuroFlow, a data analytics and care enablement platform supporting behavioral health integration and behavioral health providers.  He is a graduate of the US Military Academy at West Point and The Wharton School at the University of Pennsylvania.  As a Captain in the US Army, he was awarded the Bronze Star during a deployment to Iraq, and later, after founding NeuroFlow, won EY’s Entrepreneur of the Year award.

Erica is a Physician Assistant at Jefferson Health specializing in addiction medicine.  She is a graduate of University of Pittsburgh and Marywood University, and is currently pursuing her Doctorate of Health Sciences (DHs) degree at Thomas Jefferson University.

The Molaro Family lives in Philadelphia, and enjoys hiking, exploring, and traveling.  Madison, in just 23-months of life, is thriving, enjoying traveling, having been to 6 countries, 8 states, and on over 40 flights, and of course enjoys afternoons on the local park’s swing set.